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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UNIPROT:P06889 (
Mol
)
630,302
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
beta-Mannosidosis
is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E, p.W466X and c.1848delA. Discrepancies between genomic DNA and cDNA results when detecting this last deletion suggested a nonsense-mediated decay cell process (NMD).
Mol
Genet Metab 2006 Dec
PMID:Molecular analysis in two beta-mannosidosis patients: description of a new adult case. 1690 24
